Cargando…
Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice
We have previously described a forward genetic screen in mice for abnormalities of brain development. Characterization of two hydrocephalus mutants by whole-exome sequencing after whole-genome SNP mapping revealed novel recessive mutations in Dnaaf1 and Lrrc48. Mouse mutants of these two genes have...
Autores principales: | Ha, Seungshin, Lindsay, Anna M., Timms, Andrew E., Beier, David R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Genetics Society of America
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978901/ https://www.ncbi.nlm.nih.gov/pubmed/27261005 http://dx.doi.org/10.1534/g3.116.030791 |
Ejemplares similares
-
Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans
por: Miao, Chunyue, et al.
Publicado: (2016) -
The arginine methyltransferase Carm1 is necessary for heart development
por: Jamet, Sophie, et al.
Publicado: (2022) -
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
por: Mitchison, Hannah M., et al.
Publicado: (2012) -
Homozygous mutation in DNAAF4 causes primary ciliary dyskinesia in a Chinese family
por: Jiang, Guoliang, et al.
Publicado: (2022) -
LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
por: Horani, Amjad, et al.
Publicado: (2013)